Works matching IS 01418955 AND DT 2011 AND VI 34 AND IP 2
Results: 38
Ovarian function in girls and women with GALT-deficiency galactosemia.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 357, doi. 10.1007/s10545-010-9221-4
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- Publication type:
- Article
Biomarkers for mitochondrial respiratory chain disorders.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 277, doi. 10.1007/s10545-010-9222-3
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- Article
Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia.
- Published in:
- 2011
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- Publication type:
- Editorial
Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 293, doi. 10.1007/s10545-009-9005-x
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- Article
Biochemical diagnosis of mitochondrial disorders.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 283, doi. 10.1007/s10545-010-9081-y
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- Publication type:
- Article
A history of mitochondrial diseases.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 261, doi. 10.1007/s10545-010-9082-x
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- Article
Altering the balance between healthy and mutated mitochondrial DNA.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 309, doi. 10.1007/s10545-010-9122-6
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- Publication type:
- Article
Mitochondrial medicine: to a new era of gene therapy for mitochondrial DNA mutations.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 327, doi. 10.1007/s10545-010-9131-5
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- Article
Classic galactosemia: dietary dilemmas.
- Published in:
- 2011
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- Publication type:
- Editorial
Metabolic manipulators: a well founded strategy to combat mitochondrial dysfunction.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 315, doi. 10.1007/s10545-010-9162-y
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- Publication type:
- Article
FSH isoform pattern in classic galactosemia.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 387, doi. 10.1007/s10545-010-9180-9
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- Publication type:
- Article
Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 515, doi. 10.1007/s10545-010-9251-y
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- Publication type:
- Article
Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 499, doi. 10.1007/s10545-010-9254-8
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- Publication type:
- Article
Voice disorders in children with classic galactosemia.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 377, doi. 10.1007/s10545-010-9213-4
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- Publication type:
- Article
Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 465, doi. 10.1007/s10545-010-9255-7
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- Publication type:
- Article
Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 509, doi. 10.1007/s10545-010-9261-9
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- Publication type:
- Article
Analysis of synaptic proteins in the cerebrospinal fluid as a new tool in the study of inborn errors of neurotransmission.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 523, doi. 10.1007/s10545-010-9256-6
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- Publication type:
- Article
Dystonic tremor caused by mutation of the glucose transporter gene GLUT1.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 483, doi. 10.1007/s10545-010-9264-6
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- Publication type:
- Article
Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 345, doi. 10.1007/s10545-010-9260-x
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- Publication type:
- Article
PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 443, doi. 10.1007/s10545-010-9265-5
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- Publication type:
- Article
Growth, final height and endocrine sequelae in a UK population of patients with Hurler syndrome (MPS1H).
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 489, doi. 10.1007/s10545-010-9262-8
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- Publication type:
- Article
The sodium-dependent di- and tricarboxylate transporter, NaCT, is not responsible for the uptake of D-, L-2-hydroxyglutarate and 3-hydroxyglutarate into neurons.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 477, doi. 10.1007/s10545-010-9268-2
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- Publication type:
- Article
Sub-pleural bullous changes in two adults with Mucopolysaccharidosis type I (Hurler-Scheie).
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 547, doi. 10.1007/s10545-010-9273-5
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- Publication type:
- Article
Language production and working memory in classic galactosemia from a cognitive neuroscience perspective: future research directions.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 367, doi. 10.1007/s10545-010-9266-4
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- Publication type:
- Article
Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 391, doi. 10.1007/s10545-010-9267-3
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- Article
Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 399, doi. 10.1007/s10545-010-9270-8
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- Publication type:
- Article
Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 429, doi. 10.1007/s10545-010-9271-7
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- Publication type:
- Article
Dietary treatment of phenylketonuria: the effect of phenylalanine on reaction time.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 449, doi. 10.1007/s10545-010-9276-2
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- Publication type:
- Article
UK experience of liver transplantation for erythropoietic protoporphyria.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 539, doi. 10.1007/s10545-010-9272-6
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- Publication type:
- Article
Gender variability in presentation with Alpers' syndrome: a report of eight patients from the UAE.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 439, doi. 10.1007/s10545-011-9278-8
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- Publication type:
- Article
Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 529, doi. 10.1007/s10545-011-9279-7
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- Publication type:
- Article
A cross-sectional study of docosahexaenoic acid status and cognitive outcomes in females of reproductive age with phenylketonuria.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 455, doi. 10.1007/s10545-011-9277-9
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- Publication type:
- Article
Brain white matter abnormalities in paediatric Gaucher Type I and Type III using diffusion tensor imaging.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 549, doi. 10.1007/s10545-011-9288-6
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- Publication type:
- Article
Newborn screening for galactosemia by a second-tier multiplex enzyme assay using UPLC-MS/MS in dried blood spots.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 409, doi. 10.1007/s10545-011-9291-y
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- Publication type:
- Article
Psychosocial developmental milestones in men with classic galactosemia.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 415, doi. 10.1007/s10545-011-9290-z
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- Publication type:
- Article
Mitochondrial medicine.
- Published in:
- 2011
- By:
- Publication type:
- Editorial
Erratum to: Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?
- Published in:
- 2011
- By:
- Publication type:
- Correction Notice
Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 421, doi. 10.1007/s10545-011-9297-5
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- Publication type:
- Article